Canonical Allele Identifier: CA375693678
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352485T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352485T>C , CM000671.2:g.133352485T>C GRCh38
NC_000009.10:g.135209161T>C NCBI36
NG_008477.1:g.9022A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.712A>G MANE Select ENSP00000361042.3:p.Ile238Val
ENST00000371974.7:c.712A>G ENSP00000361042.3:p.Ile238Val
ENST00000437995.1:n.622A>G
ENST00000495952.5:n.702A>G
ENST00000615505.4:c.385A>G ENSP00000482067.1:p.Ile129Val
NM_001280787.1:c.385A>G NP_001267716.1:p.Ile129Val
NM_003172.3:c.712A>G NP_003163.1:p.Ile238Val
XM_011518942.1:c.385A>G XP_011517244.1:p.Ile129Val
NM_003172.4:c.712A>G MANE Select NP_003163.1:p.Ile238Val